Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73385977G>C , CM000664.2:g.73385977G>C | GRCh38 |
| NC_000002.11:g.73613105G>C , CM000664.1:g.73613105G>C | GRCh37 |
| NC_000002.10:g.73466613G>C | NCBI36 |
| NG_011690.1:g.5223G>C , LRG_741:g.5223G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378454.1:c.109G>C MANE Select | NP_001365383.1:p.Val37Leu |
| ENST00000613296.6:c.109G>C MANE Select | ENSP00000482968.1:p.Val37Leu |
| NM_015120.4:c.112G>C , LRG_741t1:c.112G>C | NP_055935.4:p.Val38Leu |
| ENST00000484298.5:c.109G>C | ENSP00000478155.1:p.Val37Leu |
| ENST00000613296.4:c.109G>C | ENSP00000482968.1:p.Val37Leu |
| ENST00000614410.4:c.109G>C | ENSP00000479094.1:p.Val37Leu |
| ENST00000682675.1:n.69G>C | |
| ENST00000682889.1:n.74G>C |